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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for USPL1 |
 Gene summary |
| Gene information | Gene symbol | USPL1 | Gene ID | 10208 |
| Gene name | ubiquitin specific peptidase like 1 | |
| Synonyms | C13orf22|D13S106E|bA121O19.1 | |
| Cytomap | 13q12.3 | |
| Type of gene | protein-coding | |
| Description | SUMO-specific isopeptidase USPL1USP-like 1highly charged proteinubiquitin-specific peptidase-like protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q5W0Q7 | |
| Context | PubMed: USPL1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| USPL1 | GO:0016926 | protein desumoylation | 22878415 |
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Exon skipping events across known transcript of Ensembl for USPL1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for USPL1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for USPL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99642 | 13 | 31191919:31192193:31195209:31195376:31195900:31196029 | 31195209:31195376 | ENSG00000132952.7 | ENST00000255304.4 |
| exon_skip_99648 | 13 | 31195900:31196029:31204971:31205611:31211880:31211994 | 31204971:31205611 | ENSG00000132952.7 | ENST00000255304.4 |
| exon_skip_99650 | 13 | 31204971:31205611:31211880:31211994:31216764:31216894 | 31211880:31211994 | ENSG00000132952.7 | ENST00000255304.4 |
| exon_skip_99652 | 13 | 31211880:31211994:31216764:31216894:31221068:31221194 | 31216764:31216894 | ENSG00000132952.7 | ENST00000255304.4 |
| exon_skip_99653 | 13 | 31216764:31216894:31221068:31221194:31227284:31227442 | 31221068:31221194 | ENSG00000132952.7 | ENST00000255304.4 |
| exon_skip_99654 | 13 | 31221068:31221194:31227284:31227442:31231610:31233686 | 31227284:31227442 | ENSG00000132952.7 | ENST00000255304.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for USPL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99642 | 13 | 31191919:31192193:31195209:31195376:31195900:31196029 | 31195209:31195376 | ENSG00000132952.7 | ENST00000255304.4 |
| exon_skip_99648 | 13 | 31195900:31196029:31204971:31205611:31211880:31211994 | 31204971:31205611 | ENSG00000132952.7 | ENST00000255304.4 |
| exon_skip_99650 | 13 | 31204971:31205611:31211880:31211994:31216764:31216894 | 31211880:31211994 | ENSG00000132952.7 | ENST00000255304.4 |
| exon_skip_99652 | 13 | 31211880:31211994:31216764:31216894:31221068:31221194 | 31216764:31216894 | ENSG00000132952.7 | ENST00000255304.4 |
| exon_skip_99653 | 13 | 31216764:31216894:31221068:31221194:31227284:31227442 | 31221068:31221194 | ENSG00000132952.7 | ENST00000255304.4 |
| exon_skip_99654 | 13 | 31221068:31221194:31227284:31227442:31231610:31233686 | 31227284:31227442 | ENSG00000132952.7 | ENST00000255304.4 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for USPL1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000255304 | 31195209 | 31195376 | 5CDS-5UTR |
| ENST00000255304 | 31204971 | 31205611 | Frame-shift |
| ENST00000255304 | 31216764 | 31216894 | Frame-shift |
| ENST00000255304 | 31227284 | 31227442 | Frame-shift |
| ENST00000255304 | 31211880 | 31211994 | In-frame |
| ENST00000255304 | 31221068 | 31221194 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000255304 | 31195209 | 31195376 | 5CDS-5UTR |
| ENST00000255304 | 31204971 | 31205611 | Frame-shift |
| ENST00000255304 | 31216764 | 31216894 | Frame-shift |
| ENST00000255304 | 31227284 | 31227442 | Frame-shift |
| ENST00000255304 | 31211880 | 31211994 | In-frame |
| ENST00000255304 | 31221068 | 31221194 | In-frame |
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Infer the effects of exon skipping event on protein functional features for USPL1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000255304 | 3831 | 1092 | 31211880 | 31211994 | 1211 | 1324 | 289 | 327 |
| ENST00000255304 | 3831 | 1092 | 31221068 | 31221194 | 1455 | 1580 | 371 | 412 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000255304 | 3831 | 1092 | 31211880 | 31211994 | 1211 | 1324 | 289 | 327 |
| ENST00000255304 | 3831 | 1092 | 31221068 | 31221194 | 1455 | 1580 | 371 | 412 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q5W0Q7 | 289 | 327 | 1 | 329 | Alternative sequence | ID=VSP_023479;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q5W0Q7 | 289 | 327 | 1 | 1092 | Chain | ID=PRO_0000279526;Note=SUMO-specific isopeptidase USPL1 |
| Q5W0Q7 | 289 | 327 | 227 | 500 | Domain | Note=USP |
| Q5W0Q7 | 289 | 327 | 236 | 495 | Region | Note=SUMO-binding |
| Q5W0Q7 | 371 | 412 | 1 | 1092 | Chain | ID=PRO_0000279526;Note=SUMO-specific isopeptidase USPL1 |
| Q5W0Q7 | 371 | 412 | 227 | 500 | Domain | Note=USP |
| Q5W0Q7 | 371 | 412 | 384 | 384 | Natural variant | ID=VAR_030917;Note=P->S;Dbxref=dbSNP:rs3742303 |
| Q5W0Q7 | 371 | 412 | 236 | 495 | Region | Note=SUMO-binding |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q5W0Q7 | 289 | 327 | 1 | 329 | Alternative sequence | ID=VSP_023479;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q5W0Q7 | 289 | 327 | 1 | 1092 | Chain | ID=PRO_0000279526;Note=SUMO-specific isopeptidase USPL1 |
| Q5W0Q7 | 289 | 327 | 227 | 500 | Domain | Note=USP |
| Q5W0Q7 | 289 | 327 | 236 | 495 | Region | Note=SUMO-binding |
| Q5W0Q7 | 371 | 412 | 1 | 1092 | Chain | ID=PRO_0000279526;Note=SUMO-specific isopeptidase USPL1 |
| Q5W0Q7 | 371 | 412 | 227 | 500 | Domain | Note=USP |
| Q5W0Q7 | 371 | 412 | 384 | 384 | Natural variant | ID=VAR_030917;Note=P->S;Dbxref=dbSNP:rs3742303 |
| Q5W0Q7 | 371 | 412 | 236 | 495 | Region | Note=SUMO-binding |
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SNVs in the skipped exons for USPL1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_99650 | 31211881 | 31211994 | 31211956 | 31211956 | Frame_Shift_Del | T | - | p.I315fs |
| BRCA | TCGA-AN-A0AL-01 | exon_skip_99652 | 31216765 | 31216894 | 31216765 | 31216781 | Frame_Shift_Del | GTGATATGGAAAGCCCT | - | p.D329fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_99652 | 31216765 | 31216894 | 31216844 | 31216844 | Frame_Shift_Del | T | - | p.S354fs |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_99648 | 31204972 | 31205611 | 31205109 | 31205110 | Frame_Shift_Ins | - | A | p.SK122fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_99648 | 31204972 | 31205611 | 31205495 | 31205496 | Frame_Shift_Ins | - | A | p.L251fs |
| STAD | TCGA-CG-4305-01 | exon_skip_99650 | 31211881 | 31211994 | 31211891 | 31211892 | Frame_Shift_Ins | - | A | p.C293fs |
| STAD | TCGA-CG-4305-01 | exon_skip_99650 | 31211881 | 31211994 | 31211892 | 31211893 | Frame_Shift_Ins | - | A | p.C293fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_99654 | 31227285 | 31227442 | 31227356 | 31227357 | Frame_Shift_Ins | - | T | p.L437fs |
| BLCA | TCGA-DK-A3IT-01 | exon_skip_99648 | 31204972 | 31205611 | 31205593 | 31205593 | Nonsense_Mutation | C | T | p.Q284* |
| BLCA | TCGA-4Z-AA84-01 | exon_skip_99652 | 31216765 | 31216894 | 31216887 | 31216887 | Nonsense_Mutation | C | T | p.Q369* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| HEC108_ENDOMETRIUM | 31204972 | 31205611 | 31205431 | 31205431 | Frame_Shift_Del | A | - | p.K230fs |
| HCT15_LARGE_INTESTINE | 31195210 | 31195376 | 31195341 | 31195341 | Missense_Mutation | A | T | p.I22L |
| OVMIU_OVARY | 31204972 | 31205611 | 31205168 | 31205168 | Missense_Mutation | A | G | p.N142S |
| SNU81_LARGE_INTESTINE | 31204972 | 31205611 | 31205320 | 31205320 | Missense_Mutation | G | A | p.V193I |
| HCT15_LARGE_INTESTINE | 31204972 | 31205611 | 31205389 | 31205389 | Missense_Mutation | A | G | p.S216G |
| HCC2998_LARGE_INTESTINE | 31204972 | 31205611 | 31205416 | 31205416 | Missense_Mutation | T | G | p.L225V |
| NUGC2_STOMACH | 31204972 | 31205611 | 31205546 | 31205546 | Missense_Mutation | G | T | p.R268L |
| BFTC905_URINARY_TRACT | 31211881 | 31211994 | 31211892 | 31211892 | Missense_Mutation | A | G | p.K294E |
| JHUEM1_ENDOMETRIUM | 31211881 | 31211994 | 31211902 | 31211902 | Missense_Mutation | C | G | p.T297S |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31211881 | 31211994 | 31211917 | 31211917 | Missense_Mutation | C | T | p.A302V |
| LS411N_LARGE_INTESTINE | 31216765 | 31216894 | 31216788 | 31216788 | Missense_Mutation | G | A | p.A336T |
| JHUEM7_ENDOMETRIUM | 31216765 | 31216894 | 31216828 | 31216828 | Missense_Mutation | A | C | p.K349T |
| RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31216765 | 31216894 | 31216880 | 31216880 | Missense_Mutation | C | A | p.H366Q |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31221069 | 31221194 | 31221143 | 31221143 | Missense_Mutation | C | T | p.P396L |
| SNU1040_LARGE_INTESTINE | 31221069 | 31221194 | 31221161 | 31221161 | Missense_Mutation | G | T | p.S402I |
| OUMS23_LARGE_INTESTINE | 31227285 | 31227442 | 31227309 | 31227309 | Missense_Mutation | C | G | p.H421Q |
| RKO_LARGE_INTESTINE | 31227285 | 31227442 | 31227370 | 31227370 | Missense_Mutation | C | A | p.L442I |
| HEC251_ENDOMETRIUM | 31227285 | 31227442 | 31227386 | 31227386 | Missense_Mutation | C | A | p.S447Y |
| HCC2998_LARGE_INTESTINE | 31227285 | 31227442 | 31227386 | 31227386 | Missense_Mutation | C | A | p.S447Y |
| HEC59_ENDOMETRIUM | 31204972 | 31205611 | 31205192 | 31205192 | Nonsense_Mutation | C | A | p.S150* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for USPL1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USPL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USPL1 |
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RelatedDrugs for USPL1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for USPL1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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